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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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44 hot topic(s) found with the query "Spinal muscular atrophy"

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4 (Posted: Apr 09, 2024 8AM)

From the abstract: " Is early diagnosis through newborn screening associated with improved outcomes in infants with spinal muscular atrophy compared to those diagnosed after onset of symptoms? In this nonrandomized controlled trial within the SMARTCARE registry, patients identified by newborn screening showed better motor development with disease-modifying treatments than those who were diagnosed after onset of symptoms. These results offer supporting evidence for the benefit of newborn screening for spinal muscular atrophy. "

Challenges and opportunities in spinal muscular atrophy therapeutics.
Crystal J J Yeo et al. Lancet Neurol 2024 1 (2) 205-218 (Posted: Jan 26, 2024 10AM)

From the abstract: " Spinal muscular atrophy was the most common inherited cause of infant death until 2016, when three therapies became available: the antisense oligonucleotide nusinersen, gene replacement therapy with onasemnogene abeparvovec, and the small-molecule splicing modifier risdiplam. These drugs compensate for deficient survival motor neuron protein and have improved lifespan and quality of life in infants and children with spinal muscular atrophy. Given the lifelong implications of these innovative therapies, ways to detect and manage treatment-modified disease characteristics are needed. All three drugs are more effective when given before development of symptoms."

A Revolution Is Coming to Medicine. Who Will It Leave Out?
J Tabery, NY Times, August 5, 2023 (Posted: Aug 07, 2023 9AM)

There are some diseases for which genetics is truly saving lives; in particular, patients with rare diseases like spinal muscular atrophy and certain cancers such as chronic myelogenous leukemia may now be prescribed personalized medicine treatments that simply didn’t exist a couple of decades ago. For most patients with most diseases, though, the lofty promises have failed to materialize.

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
F Niri et al, IJNS, July 27, 2023 (Posted: Jul 30, 2023 10AM)

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected individuals. We developed a multiplex quantitative polymerase chain reaction (qPCR) assay using dried blood spot (DBS) samples for the detection of homozygous absence of exon 7 of the SMN1 gene.

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023 (Posted: Apr 09, 2023 8AM)

During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
T Nuzzo et al, Comm Med, February 15, 2023 (Posted: Feb 15, 2023 7AM)

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions.
Hoskovec Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12 (Posted: Dec 02, 2022 6AM)

The purpose of this study was to evaluate the clinical performance of carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy with reflex single-gene noninvasive prenatal screening (sgNIPS), which does not require paternal carrier screening. An unselected sample of 9151 pregnant individuals from the general US pregnant population was screened for carrier status. Overall, 98.7% of pregnant individuals received an informative result (no-call rate = 1.3%), either a negative carrier report or, if identified as heterozygous for a pathogenic variant, a reflex sgNIPS report.

Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
STF Shih et al, IJNS, July 20, 2022 (Posted: Jul 21, 2022 7AM)

Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives

Early treatment is a lifeline for infants with SMA.
Sumner Charlotte J et al. Nature medicine 2022 7 (Posted: Jul 18, 2022 1PM)

In the phase 3 SPR1NT trial, pre-symptomatic gene therapy demonstrated impressive clinical outcomes in infants with a genetic diagnosis of spinal muscular atrophy (SMA); long-term safety follow-up of these patients must now be a key priority.

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
KA Strauss et al, Nature Medicine, June 17, 2022 (Posted: Jun 18, 2022 10AM)

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24?months (P?<?0.0001; 14 within normal developmental window), and 14 walked independently (P?<?0.0001; 11 within normal developmental window). All survived without permanent ventilation at 14?months; ten (67%) maintained body weight (=3rd WHO percentile) without feeding support through 24?months; and none required nutritional or respiratory support.

What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
FK Boardman et al, EJHG, September 27, 2021 (Posted: Sep 28, 2021 6AM)

This study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, hemophilia, thalassemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition.

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras Basil T et al. The New England journal of medicine 2021 7 (5) 427-435 (Posted: Jul 29, 2021 8AM)

In this study involving infants with type 1 SMA, risdiplam resulted in higher percentages of infants who met motor milestones and who showed improvements in motor function than the percentages observed in historical cohorts. Longer and larger trials are required to determine the long-term safety and efficacy of risdiplam in infants with type 1 SMA.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).
Gregg Anthony R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 7 (Posted: Jul 22, 2021 7AM)

Carrier screening began 50 years ago with screening for conditions that have a high prevalence in defined racial/ethnic groups (e.g., Tay-Sachs disease in the Ashkenazi Jewish population; sickle cell disease in Black individuals). Cystic fibrosis was the first medical condition for which panethnic screening was recommended, followed by spinal muscular atrophy. Next-generation sequencing allows low cost and high throughput identification of sequence variants across many genes simultaneously.

Treatment boost for spinal muscular atrophy- A small molecule that acts as a splicing modifier shows promise as a non-invasive therapy for type 1 spinal muscular atrophy.
J Staal, Nature Medicine, March 31, 2021 (Posted: Apr 01, 2021 1PM)

Efficacy and costs of spinal muscular atrophy drugs
JJ Darrow et al, Sci Trans Med, November 11, 2020 (Posted: Nov 12, 2020 8AM)

Evaluating the benefits, risks, and costs of two drugs to treat spinal muscular atrophy raises questions about the future of rare disease medicines.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
DM Kay et al, Genetics in Medicine, May 18, 2020 (Posted: May 19, 2020 7AM)

At 1 in 28,137 (95% confidence interval [CI]: 1 in 14,259 to 55,525), the New York State SMA incidence is 2.6- to 4.7-fold lower than expected. The low SMA incidence is likely attributable to imprecise and biased estimates, coupled with increased awareness, access to and uptake of carrier screening and prenatal diagnosis.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen Xiao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb (Posted: Feb 20, 2020 10AM)

Mom says she'll fight for world's most expensive drug for daughter, costs $2 million
AJC, August 22, 2019 (Posted: Aug 22, 2019 9AM)

Spinal Muscular Atrophy is a genetic condition. It causes muscle weakness and can lead to death. If not treated, the condition causes respiratory issues where kids are unable to breathe on their own. Gene therapy treatment must be administered by the time the child is 2 years old. It is considered the world's most expensive drug.

This Drug Will Save Children’s Lives. It Costs $2 Million.
NY Times editorial board, August 13, 2019 (Posted: Aug 14, 2019 8AM)

Spinal muscular atrophy is a rare genetic disorder that prevents the nervous system from controlling certain muscles. The Food and Drug Administration recently approved a single-dose gene therapy that has the potential to cure spinal muscular atrophy. Treatment’s price is $2.1 million per patient.

Family fights for genetic screening to save others from muscle-wasting disease afflicting their toddler
C Thorbecke, Good Morning America, July 9, 2019 (Posted: Jul 09, 2019 8AM)

When Shane was just 10 months old, he was diagnosed with Spinal Muscular Atrophy, a genetic disease that affects the motor nerve cells in the spinal cord, and eventually erodes your ability to eat, walk or even breathe. One of the issues with diagnosing SMA before a baby exhibits symptoms, however, is that the symptoms of the often deadly disease are largely undetectable for the first few months of a baby's life.

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
Baker Mei et al. JAMA neurology 2019 May (Posted: May 22, 2019 8AM)

Two drugs for spinal muscular atrophy should be priced how low to be cost effective?
E Silverman, Stat News, February 22, 2019 (Posted: Feb 23, 2019 10AM)

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis.
Tosolini Andrew P et al. Frontiers in molecular neuroscience 2017 405 (Posted: Feb 06, 2018 0PM)

Treatment Advances in Spinal Muscular Atrophy.
Bharucha-Goebel Diana et al. Current neurology and neuroscience reports 2017 Oct (11) 91 (Posted: Dec 11, 2017 8PM)

Antisense oligonucleotides: the next frontier for treatment of neurological disorders.
Rinaldi Carlo et al. Nature reviews. Neurology 2017 Dec (Posted: Dec 11, 2017 8PM)

Nusinersen for Spinal Muscular Atrophy- Are We Paying Too Much for Too Little?
JAMA Pediatrics, Dec 11, 2017 (Posted: Dec 11, 2017 8PM)

Clinical Trials Bring Hope to Kids with Spinal Muscular Atrophy
F Collins, NIH Director's blog, Nov 21, 2017 Brand (Posted: Nov 28, 2017 10AM)

The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.
van der Ploeg Ans T et al. The New England journal of medicine 2017 11 (18) 1786-1787 (Posted: Nov 04, 2017 0PM)

Two New Ways to Treat A Deadly Disease: Spinal Muscular Atrophy
R Lewis, PLOS Blogs, Nov 2, 2017 (Posted: Nov 02, 2017 11AM)

A pilot study of population-based newborn screening for spinal muscular atrophy in New York state
JN Krazewski et al, Genetics in Medicine, October 12, 2017 (Posted: Oct 13, 2017 1PM)

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
Taylor Jennifer L et al. Clin. Chem. 2015 Feb (2) 412-9 (Posted: Apr 01, 2015 1PM)

Spinal muscular atrophy type 3
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy type 4
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Arthrogryposis spinal muscular atrophy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Congenital benign spinal muscular atrophy dominant
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Proximal spinal muscular atrophy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy type 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy type 1 with congenital bone fractures
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy 1
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy with respiratory distress 1
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Adult progressive spinal muscular atrophy Aran Duchenne type
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spinal muscular atrophy Ryukyuan type
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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